CASQ2 Gene
The CASQ2 gene provides instructions for making a protein called calsequestrin 2. This protein is found in cardiac muscle cells called myocytes, where it is involved in the storage and transport of calcium ions. Diseases associated with CASQ2 include Catecholaminergic Polymorphic Ventricular Tachycardia. Four distinct mutations in the human cardiac calsequestrin gene (CASQ2) have been linked to catecholaminergic polymorphic ventricular tachycardia (CPVT). A homozygous 16-bp deletion at position 339 to 354 leading to a frame shift and a stop codon after 5aa, and a novel point mutation (CASQ2L167H) have been identified in highly symptomatic CPVT.
